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Metadata
ID DOID:0050790
Name fibular hypoplasia and complex brachydactyly
Definition An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.
https://en.wikipedia.org/wiki/Acromesomelic_dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/16222676
Xrefs

KEGG:H00467

MESH:C537931

MIM:228900

ORDO:2639

Subsets

DO_rare_slim

Synonyms

acromesomelic dysplasia-2B [EXACT]

Du Pan syndrome [EXACT]

Parent Relationships

is_a acromesomelic dysplasia

is_a autosomal recessive disease

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